Original Research
Accepted on 25 Jun 2025
Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Variants in Xinjiang, China
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1617418
Type at least 3 characters
1,879 articles
Original Research
Accepted on 25 Jun 2025
Genetic and Clinical Landscape of Duchenne Muscular Dystrophy in Guatemala: Insights from a National Study
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1595423
Original Research
Accepted on 24 Jun 2025
Identification of Variants in SWI/SNF Complex Genes Associated with Neurodevelopmental Disorders
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1511796
Case Report
Accepted on 24 Jun 2025
Case Report: Surgical Management of Primary Lymphedema with a Novel PROX1 Mutation Involving Upper and Lower Limbs
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1560471
Original Research
Published on 24 Jun 2025
Association of the MUC5B promoter polymorphism with idiopathic pulmonary fibrosis in a lebanese cohort
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1544864
- 360 views
Case Report
Published on 24 Jun 2025
Case Report: Novel truncating PPM1D variant in a dichorionic diamniotic (DCDA) twin with Jansen-de Vries syndrome. an updated perspective
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1601752
- 250 views
Original Research
Accepted on 23 Jun 2025
Genetic subtypes of type 2 diabetes are distinguished through the lens of abdominal MRI
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1605721
- 150 views
Original Research
Accepted on 23 Jun 2025
Bioinformatics analysis and experimental validation of ferroptosis genes in heart failure and atrial fibrillation
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1541342
Case Report
Accepted on 23 Jun 2025
The nonsense variation of the cardiac transcription factor NKX2-5 has been identified in a Chinese family with nonsyndromic congenital heart disease
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1498144
Case Report
Published on 23 Jun 2025
Case Report: Incidental late-onset Pompe disease diagnosis in a man with no clinical and instrumental evidence of neuromuscular dysfunction
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1574381
- 350 views
Original Research
Published on 23 Jun 2025
Shared pathogenesis in polycystic ovaries and rheumatoid arthritis: an analysis of key genes and pathways
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1554139
- 437 views
Correction
Accepted on 20 Jun 2025
Correction：A non-invasive method for screening mitochondrial diabetes
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1645252
- 116 views
Original Research
Accepted on 20 Jun 2025
Identification of a novel microdeletion at 9q21.13 in a family with epilepsy, intellectual disability, and speech disorders and literature review
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1616005
- 129 views
Original Research
Published on 20 Jun 2025
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1580879
- 555 views
Original Research
Published on 19 Jun 2025
Two novel variants in CNNM2 disrupts magnesium efflux leading to neurodevelopmental disorders
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1600877
- 410 views
Case Report
Published on 18 Jun 2025
Case Report: A first case of desmin-related myofibrillar myopathy due to inheritance from a confirmed mosaic asymptomatic carrier
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1597851
- 501 views